Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities.
Since its description in 1965, distal 10q trisomy has become recognised as a well defined, although rare syndrome, almost always the result of an unbalanced translocation. Typical features consist of psychomotor delay, a distinctive dysmorphic appearance, growth retardation, and, in some cases, cardiac, renal, and ocular abnormalities.
Davies
J
J
Department of Respiratory Paediatrics, Royal Brompton Hospital, London, UK.
Jaffé
A
A
Bush
A
A
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics*; D001980:Bronchi / Q000002:abnormalities; D002879:Chromosomes, Human, Pair 10 / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18 / Q000235:genetics; D003884:Dermoid Cyst; D005317:Fetal Growth Retardation; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011666:Pulmonary Valve Stenosis; D011667:Pulmonary Veins / Q000002:abnormalities; D011859:Radiography; D013577:Syndrome; D014178:Translocation, Genetic; D014314:Trisomy / Q000235:genetics*